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Expression of LIM domain-binding 3 (LDB3), a striated muscle Z-band alternatively spliced PDZ-motif protein in the nervous system

Scientific reports, 2023-01, Vol.13 (1), p.270-270, Article 270

2023

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Myopathy associated LDB3 mutation causes Z-disc disassembly and protein aggregation through PKCα and TSC2-mTOR downregulation

Communications biology, 2021-03, Vol.4 (1), p.355-355, Article 355

2021

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Novel Variants in Individuals with RYR1 -Related Congenital Myopathies: Genetic, Laboratory, and Clinical Findings

Frontiers in neurology, 2018-03, Vol.9, p.118

2018

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Chloride channelopathy in myotonic dystrophy resulting from loss of posttranscriptional regulation for CLCN1

American Journal of Physiology: Cell Physiology, 2007-04, Vol.292 (4), p.C1291-C1297

2007

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Z-disc-associated, Alternatively Spliced, PDZ Motif-containing Protein (ZASP) Mutations in the Actin-binding Domain Cause Disruption of Skeletal Muscle Actin Filaments in Myofibrillar Myopathy

The Journal of biological chemistry, 2014-05, Vol.289 (19), p.13615-13626

2014

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Expression and Purification of ZASP Subdomains and Clinically Important Isoforms: High-Affinity Binding to G‑Actin

Biochemistry (Easton), 2017-04, Vol.56 (14), p.2061-2070

2017

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Muscle chloride channel dysfunction in two mouse models of myotonic dystrophy

The Journal of general physiology, 2007-01, Vol.129 (1), p.79-94

2007

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Lysosomal abnormalities in hereditary spastic paraplegia types SPG15 and SPG11

Annals of clinical and translational neurology, 2014-06, Vol.1 (6), p.379-389

2014

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Improved Criteria for the Classification of Titin Variants in Inherited Skeletal Myopathies

Journal of neuromuscular diseases, 2020-01, Vol.7 (2), p.153-166

2020

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Upper arm and cardiac magnetic resonance imaging in Duchenne muscular dystrophy

Annals of clinical and translational neurology, 2016-12, Vol.3 (12), p.948-955

2016

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Respiratory magnetic resonance imaging biomarkers in Duchenne muscular dystrophy

Annals of clinical and translational neurology, 2017-09, Vol.4 (9), p.655-662

2017

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Holistic segmentation of the lung in cine MRI

Journal of medical imaging (Bellingham, Wash.), 2017-10, Vol.4 (4), p.041310-041310

2017

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Tracking diaphragm and chest wall movement on cine-MRI

2018 IEEE 15th International Symposium on Biomedical Imaging (ISBI 2018), 2018, p.1301-1304

2018

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Chloride channelopathy in myotonic dystrophy resulting from loss of posttranscriptional regulation for CLCN1

American Journal of Physiology: Cell Physiology, 2007, Vol.61 (4)

2007

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Lysosomal abnormalities in hereditary spastic paraplegia types SPG 15 and SPG 11

Annals of clinical and translational neurology, 2014-06, Vol.1 (6), p.379-389

2014

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Chapter 94 - The Distal Myopathies

Rosenberg's Molecular and Genetic Basis of Neurological and Psychiatric Disease, 2015, p.1131-1143

Fifth Edition, 2015

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Novel Variants in Individuals with RYR1-Related Congenital Myopathies: Genetic, Laboratory, and Clinical Findings

Frontiers in neurology, 2018, Vol.9, p.118-118

2018

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Peripheral neuropathy in a family with Sandhoff disease and SH3TC2 deficiency

Journal of neurology, 2015, Vol.262 (4), p.1066-1068

2015

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Chapter 110 - Metabolic Myopathies

Office Practice of Neurology, p.713-718

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Expression of LIM domain-binding 3 (LDB3), a striated muscle Z-band alternatively spliced PDZ-motif protein in the nervous system

Myopathy associated LDB3 mutation causes Z-disc disassembly and protein aggregation through PKCα and TSC2-mTOR downregulation

Novel Variants in Individuals with RYR1 -Related Congenital Myopathies: Genetic, Laboratory, and Clinical Findings

Chloride channelopathy in myotonic dystrophy resulting from loss of posttranscriptional regulation for CLCN1

Z-disc-associated, Alternatively Spliced, PDZ Motif-containing Protein (ZASP) Mutations in the Actin-binding Domain Cause Disruption of Skeletal Muscle Actin Filaments in Myofibrillar Myopathy

Expression and Purification of ZASP Subdomains and Clinically Important Isoforms: High-Affinity Binding to G‑Actin

Muscle chloride channel dysfunction in two mouse models of myotonic dystrophy

Lysosomal abnormalities in hereditary spastic paraplegia types SPG15 and SPG11

Improved Criteria for the Classification of Titin Variants in Inherited Skeletal Myopathies

Upper arm and cardiac magnetic resonance imaging in Duchenne muscular dystrophy

Respiratory magnetic resonance imaging biomarkers in Duchenne muscular dystrophy

Holistic segmentation of the lung in cine MRI

Tracking diaphragm and chest wall movement on cine-MRI

Chloride channelopathy in myotonic dystrophy resulting from loss of posttranscriptional regulation for CLCN1

Lysosomal abnormalities in hereditary spastic paraplegia types SPG 15 and SPG 11

Chapter 94 - The Distal Myopathies

Novel Variants in Individuals with RYR1-Related Congenital Myopathies: Genetic, Laboratory, and Clinical Findings

Peripheral neuropathy in a family with Sandhoff disease and SH3TC2 deficiency

Chapter 110 - Metabolic Myopathies

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